Canonical Allele Identifier: PA2827196040
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2439582
ClinVar RCV Id: RCV003143833
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Glu487Lys
CA2277488
NM_001323582.1:c.1459G>A